Karin Tuschl

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sídney M. Gospe et al. · The American Journal of Human Genetics · 2012 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 323 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B. Mills, Emma Footitt, Kevin Mills et al. · Brain · 2010 · 266 citations · Full text

Medicine, Neurology, Biochemical Genetics +16

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry

Margareta Holub, Karin Tuschl, Rene Ratschmann et al. · Clinica Chimica Acta · 2006 · 140 citations

Life Sciences, Biochemistry, Molecular Biology +16

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

Karin Tuschl, Philippa B. Mills, Howard Parsons et al. · Journal of Inherited Metabolic Disease · 2008 · 131 citations

Medicine, Internal Medicine, Pathology +11